Table 3. Non-pathogenic CTR9 variants identified in Wilms tumour cases and controls.
| Variant | dbSNP |
In-silico predictions |
Consensus splice | Wilms tumour | Controls | |
|---|---|---|---|---|---|---|
| PolyPhen-2 | SIFT | |||||
| c.75G>A(p.=) | rs138850547 | No effect | 1 | |||
| c.303G>C; p.Lys101Asn | Possibly damaging | Tolerated | No effect | 1 | ||
| c.304A>G; p.Asn102Asp | Benign | Tolerated | No effect | 1 | ||
| c.762T>C(p.=) | rs116362368 | No effect | 1 | |||
| c.921G>A(p.=) | rs368868162 | No effect | 1 | |||
| c.1233T>C(p.=) | rs143491141 | No effect | 1 | |||
| c.1329G>T; p.Glu443Asp | Benign | Tolerated | No effect | 2 | ||
| c.1461C>T(p.=) | No effect | Common | Common | |||
| c.1494C>T(p.=) | rs7118399 | No effect | Common | Common | ||
| c.1687-3C>T | rs76650154 | No effect | 5 | |||
| c.1800T>C(p.=) | rs199500868 | No effect | 1 | |||
| c.1873-4A>G | No effect | 3 | ||||
| c.2097C>T(p.=) | rs140813178 | No effect | 1 | 8 | ||
| c.2372+4A>C | rs199735513 | No effect | 1 | |||
| c.2445-8T>C | No effect | 1 | ||||
| c.2487C>T(p.=) | No effect | 1 | ||||
| c.2516G>A; p.Arg839Gln | Benign | Tolerated | No effect | 1 | ||
| c.2610G>A(p.=) | No effect | 1 | ||||
| c.2745A>G(p.=) | No effect | 1 | ||||
| c.2897G>C; p.Gly966Ala | rs192522878 | Benign | Tolerated | No effect | 1 | |
| c.2953C>T; p.Arg985Cys | Possibly damaging | Affect protein function | No effect | 1 | ||
| c.3095+8_3095+9dupAT | No effect | 1 | ||||
| c.3149A>G; p.Lys1050Arg | rs141131642 | Benign | Tolerated | No effect | 3 | |
| c.3154T>C; p.Cys1052Arg | rs35696189 | Benign | Tolerated | No effect | 3 | |
| c.3195G>A(p.=) | rs34200650 | No effect | 1 | |||
| c.3211G>A; p.Gly1071Ser | rs35766432 | Benign | Tolerated | No effect | 2 | 2 |
| c.3244G>A; p.Asp1082Asn | rs138871050 | Benign | Tolerated | No effect | 1 | |
| c.3284G>A; p.Arg1095Lys | rs141434094 | Possibly damaging | Tolerated | No effect | 1 | |
| c.3292G>A; p.Gly1098Ser | rs376210239 | Benign | Tolerated | No effect | 1 | |
| c.3402G>A(p.=) | rs147016884 | No effect | 1 | 1 | ||
| c.3449A>G; p.Glu1150Gly | rs35023148 | Benign | Tolerated | No effect | 2 | |
| c.3512A>G; p.Asp1171Gly | Benign | Deleterious | No effect | 1 | ||
dbSNP, database of single nucleotide polymorphisms; PolyPhen-2, polymorphism phenotyping version 2; SIFT, sorting intolerant from tolerant.